THE STUDY OF MUTATION SPECTRUM OF HEMOPHILIA / Шинэ санаа Шинэ нээлт

ABSTRACT

Background: Hemophilia is life-threatening and hereditary bleeding disorder caused by deficiencies of pi coagulation VIII. IX, XI factor, and that is inherited by X-linkcd recessive. However, hemophilic treatment is getting increase in our country, but still insufficient or poor because of high cost, which is about 50000-70000$ per patient per year in other countries. Now, we need to detect hemophilia heterozygote (XAX*) or no symptomatic carrier among hemophiliac siblings (including mother, younger sister, sister) that is essential for prevention of hemophilia. We need to screen the mutation spectrum of FS and F9 gene among patients with hemophilia in order to detect hemophilia carriers. Objective: to detect a mutation 1'Ó ø! f9 gene among patients with hemophilia Methods: The blood samples were collected from paffeflf* who had been hospitalizing in department ot hematology of the First Clinical Hospital and the National Center for Maternal and Child Health from 2010 to 2011. We have carried out the screening of most common mutation named int- 22 inversion by Long-Range PC'R method is previously described by Lui Q et al.. 1998. Direct sequence method was used to detect the SNP and small deletion in patients who had no int-22 inv and large deletion. Results: In total, If pillitfhis with hemophilia (ÈË-14, IIB=1) participated in this study. The 9 patients positive for an int-22 inversion mutation, while the one patient had a multiple exon deletion (exon 1-13) which was demonstrated by repeated PC'R amplification failure. I wo missense mutation and 1 frame shift mutation were detected. The one patient had nonsense mutation but he was diagnosed as a severe hemophilia-A patient. Conclusion: We have to urgently adopt the molecular diagnosis and carrier detection ol hemophilia in our rnuntrv